Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172438 | SCV000055090 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041036 | SCV000064727 | uncertain significance | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | The p.Ile4662Val variant in TTN has been identified by our laboratory in 1 Cauca sian individual with DCM. It has also been identified in 2/67120 European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374783099). Computational analyses are limited or unavailable for this variant. In summary, the clinical significance of the p.Ile4662Val variant is un certain. |
Fulgent Genetics, |
RCV002483023 | SCV002786711 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2022-03-31 | criteria provided, single submitter | clinical testing |